A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration
Article, Other literature type
Scholl, Hendrik P.N.
Weber, Bernhard H.F.
- Publisher: Elsevier BV
The American Journal of Human Genetics,
Genetics(clinical) | Genetics | Articles
Stargardt disease (STGD) is a common autosomal recessive maculopathy of early and young-adult onset and is caused by alterations in the gene encoding the photoreceptor-specific ATP-binding cassette (ABC) transporter (ABCA4). We have studied 144 patients with STGD and 22...